SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1135402912 MAGI2 Health Risk Pathogenic Nephrotic syndrome 15, Nephrotic syndrome 15
RS1135402913 MAGI2 Health Risk Pathogenic Nephrotic syndrome 15, Nephrotic syndrome 15
RS1135402914 CD55 Health Risk Pathogenic CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE
RS1135402915 CD55 Health Risk Pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS1135402916 CD55 Health Risk Pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS1135402917 CD55 Health Risk Pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS1135402918 CD55 Health Risk Pathogenic Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome, Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
RS113541584 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS113542001 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiomyopathy
RS113542201 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder
RS113543334 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113544411 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113544635 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, MYO1E-related disorder
RS113547523 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Proteus syndrome
RS113548014 ARID2 Health Risk Likely pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS113549339 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Tuberous sclerosis 1
RS113552091 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS113555227 FREM1 Health Risk Conflicting classifications of pathogenicity FREM1-related disorder, FREM1-related disorder
RS113560320 SDHAF2 Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 2, Hereditary cancer-predisposing syndrome
RS113562492 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS113566014 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS113570783 PDZD7 Health Risk Conflicting classifications of pathogenicity —
RS113571926 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS113577450 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS113582618 KRT14 Health Risk Pathogenic —
RS113583033 GPAA1 Health Risk Likely pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS113584704 PI4KA Health Risk Conflicting classifications of pathogenicity Polymicrogyria, perisylvian
RS113587712 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS113587743 OGDH Health Risk Conflicting classifications of pathogenicity Oxoglutaricaciduria, Oxoglutaricaciduria
RS113591604 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS113593896 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis imperfecta
RS113594027 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS113594178 FDXR Health Risk Conflicting classifications of pathogenicity FDXR-related disorder, Inborn genetic diseases
RS113595574 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS113596176 TRIP4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113597796 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS113602180 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113602485 GRHPR Health Risk Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis, Primary hyperoxaluria
RS113603747 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS113604000 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS113604459 FBN1 Health Risk Likely pathogenic Cardiovascular phenotype, Marfan syndrome
RS113605136 COL6A3 Health Risk Likely pathogenic —
RS113605768 RIPK1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS113605875 TGFBR1 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 1, Cardiovascular phenotype
RS113607507 MYLK Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS113610699 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Hepatocellular carcinoma
RS113612402 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS113614842 SALL1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 1, Townes syndrome
RS113616418 DNAH17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DNAH17-related disorder
RS113617037 TNNT3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy, Nemaline myopathy
RS113617771 SPARC Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, SPARC-related disorder
RS113624323 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS113624356 BBS1 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS113625622 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS113631419 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS113632824 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, DUOX2-related disorder
RS113638388 GAD1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS113642086 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS113643181 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS113645893 ARG1 Health Risk Likely pathogenic Arginase deficiency, Arginase deficiency
RS113646094 ABCC2 Health Risk Conflicting classifications of pathogenicity —
RS113651836 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS113651985 WFS1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS113652023 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS113652076 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS113656989 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS113660545 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS113663584 PTCH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS113667224 MYH11;NDE1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS113668504 C1QTNF3 Health Risk Conflicting classifications of pathogenicity —
RS113669610 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS113669789 TMEM70 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS113673055 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS113673597 BAAT Health Risk Conflicting classifications of pathogenicity BAAT-related disorder, BAAT-related disorder
RS113676750 PTPRB Health Risk Conflicting classifications of pathogenicity —
RS113678603 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS113679696 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS113681235 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS113683179 FN1 Health Risk Pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS113684274 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS113688475 OTOG Health Risk Conflicting classifications of pathogenicity OTOG-related disorder, Autosomal recessive nonsyndromic hearing loss 18B
RS113689741 NHEJ1 Health Risk Conflicting classifications of pathogenicity Cernunnos-XLF deficiency, NHEJ1-related disorder
RS113689961 SMS Health Risk Likely pathogenic SMS-related disorder, SMS-related disorder
RS113690956 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS113693945 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113695103 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS113695182 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS113695558 LAMB3 Health Risk Likely pathogenic —
RS113696032 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS113697235 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS113697814 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS113698006 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS113700354 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS113702075 SBF2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS113705469 TGM1 Health Risk Likely pathogenic —
RS113706344 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS113709347 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS113709679 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS113712384 RBP4 Health Risk Likely pathogenic —
RS113716139 USH2A Health Risk Conflicting classifications of pathogenicity —
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